Lab Test

Test Definition Number : 37
Test Definition Name : BCR-ABL1 t(9;22) translocation detection
Lab Name : OHSU Knight Diagnostics Lab
Lab Test Number of THIS Version : 1172
Lab Test Name : BCR-ABL Kinase Domain / ABL Sequencing
Status : Active
Expired : No
Updated : 2018-01-27 21:53 EST

General Attributes

Chromosome Band : 9q34.11
HUGO Gene Name : [ABL1] ABL proto-oncogene 1, non-receptor tyrosine kinase
[BCR] breakpoint cluster region
ICD-Oncology Code
(includes WHO classification diagnoses)
: [9875/3] Chronic myelogenous leukemia, BCR/ABL positive

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Polymerase Chain Reaction (PCR) - Reverse Transcriptase
Sequencing - Sanger - Bi-directional
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
Bone Marrow Aspirate
ICD-10 Code :
Use :
Genetics Category : Acquired (somatic)
Comments : Background: Tyrosine kinase inhibitors such as imatinib mesylate are the mainstay of targeted therapy for chronic myeloid leukemia. Tyrosine kinase inhibitors act by blocking the ATP binding site of BCR-ABL kinase, the abnormally active enzyme responsible for uncontrolled myeloproliferation in chronic myeloid leukemia. However, a mutation in ABL kinase’s ATP binding site or in another domain may abrogate the potency of imatinib and newer generation tyrosine kinase inhibitors to control chronic myeloid leukemia. Hence, ABL kinase domain mutation analysis is indicated in patients who failed or are at risk of failing imatinib or other tyrosine kinase inhibitor therapy. Clinical Utility: In patients who failed or are at risk of failing tyrosine kinase inhibitor therapy, knowledge of the mutation type in the ABL kinase domain responsible for resistance is intended to aid clinical assessment and management planning. Methodology: This assay is based on RT-PCR amplification of the entire ABL1 kinase domain followed by direct DNA sequencing by the Sanger method. Sequencing will detect all known mutations associated with drug resistance. Sensitivity: Assay sensitivity is at ~20% mutant clone’s abundance in the back-ground of wild-type clones. Results are reported as “positive” or “undetected.” NOTE: Sequencing is not possible if the BCR-ABL/ABL ratio is at or below 0.1% on the International Scale. Samples with a BCR-ABL/ABL ratio of ~0.1% IS will not be run.
Specimen Transport Requirements : A 10-20 mL sample of blood or bone marrow in a yellow (ACD) or purple (EDTA) tube (mixed thoroughly). Deliver to lab at shipping address above within 24 hours of collection, if sample cannot arrive within 24 hours, refrigerate until sample can be transported, then transport on ice packs; do not freeze. If sample is to be shipped overnight, pour blood/bone marrow into RPMI media at a 1:1 ratio (1 mL of RPMI to 1 mL of blood/bone marrow) and mix thoroughly. If our lab is used to monitor the patient’s BCR-ABL1 RNA levels (by RQ-PCR), the same sample that was used for quantitative PCR can also be used for sequencing. We routinely store these samples (stabilized) for several weeks after RQ-PCR reporting. Please call Client Services at (855) 535-1522 to order sequencing.
Samples Available for Proficiency Test Sample Exchange : Yes


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